Canonical Allele Identifier: CA400867878
Gene: SOX9 HGNC NCBI

Linked Data

COSMIC: COSM983756
MyVariant Identifiers: chr17:g.70120181A>G (hg19) chr17:g.72124040A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124040A>G , CM000679.2:g.72124040A>G GRCh38
NC_000017.10:g.70120181A>G , CM000679.1:g.70120181A>G GRCh37
NC_000017.9:g.67631776A>G NCBI36
NG_012490.1:g.8021A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1183A>G MANE Select ENSP00000245479.2:p.Thr395Ala
ENST00000245479.2:c.1183A>G ENSP00000245479.2:p.Thr395Ala
NM_000346.3:c.1183A>G NP_000337.1:p.Thr395Ala
NM_000346.4:c.1183A>G MANE Select NP_000337.1:p.Thr395Ala
Search 100 bp 5'
Search 100 bp 3'